Gene Symbol: Thap1
Description: THAP domain containing 1
Alias: THAP domain-containing protein 1, THAP domain-containing apoptosis-associated protein 1
Clouaire T, Roussigne M, Ecochard V, Mathe C, Amalric F, Girard J. The THAP domain of THAP1 is a large C2CH module with zinc-dependent sequence-specific DNA-binding activity. Proc Natl Acad Sci U S A. 2005;102:6907-12 pubmed
..approximately 100 distinct THAP proteins in model animal organisms, including human nuclear proapoptotic factors THAP1 and DAP4/THAP0, transcriptional repressor THAP7, zebrafish orthologue of cell cycle regulator E2F6, and ..
Cayrol C, Lacroix C, Mathe C, Ecochard V, Ceribelli M, Loreau E, et al
. The THAP-zinc finger protein THAP1 regulates endothelial cell proliferation through modulation of pRB/E2F cell-cycle target genes. Blood. 2007;109:584-94 pubmed
We recently cloned a novel human nuclear factor (designated THAP1) from postcapillary venule endothelial cells (ECs) that contains a DNA-binding THAP domain, shared with zebrafish E2F6 and several Caenorhabditis elegans proteins ..
Bessière D, Lacroix C, Campagne S, Ecochard V, Guillet V, Mourey L, et al
. Structure-function analysis of the THAP zinc finger of THAP1, a large C2CH DNA-binding module linked to Rb/E2F pathways. J Biol Chem. 2008;283:4352-63 pubmed
b>THAP1, the founding member of a previously uncharacterized large family of cellular proteins (THAP proteins), is a sequence-specific DNA-binding factor that has recently been shown to regulate cell proliferation through modulation of pRb/..
Fuchs T, Gavarini S, Saunders Pullman R, Raymond D, Ehrlich M, Bressman S, et al
. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat Genet. 2009;41:286-8 pubmed publisher
We report the discovery of a mutation in the THAP1 gene in three Amish-Mennonite families with mixed-onset primary torsion dystonia (also known as DYT6 dystonia)...
Sabogal A, Lyubimov A, Corn J, Berger J, Rio D. THAP proteins target specific DNA sites through bipartite recognition of adjacent major and minor grooves. Nat Struct Mol Biol. 2010;17:117-23 pubmed publisher
..Sequence analysis of natural and in vitro-selected binding sites suggests that several THAPs (DmTHAP and human THAP1 and THAP9) recognize a bipartite TXXGGGX(A/T) consensus motif; homology suggests THAP proteins bind DNA through a ..
Kaiser F, Osmanoric A, Rakovic A, Erogullari A, Uflacker N, Braunholz D, et al
. The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6). Ann Neurol. 2010;68:554-9 pubmed publisher
Mutations in THAP1 have been associated with dystonia 6. THAP1 encodes a transcription factor with mostly unknown targets. We tested the hypothesis that THAP1 regulates the expression of DYT1 (TOR1A), another dystonia-causing gene...
Zhao Y, Xiao J, Gong S, Clara J, LeDoux M. Neural expression of the transcription factor THAP1 during development in rat. Neuroscience. 2013;231:282-95 pubmed publisher
Loss of function mutations in THAP1 has been associated with primary generalized and focal dystonia in children and adults...
Richter A, Hollstein R, Hebert E, Vulinović F, Eckhold J, Osmanovic A, et al
. In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein. J Mol Neurosci. 2017;62:11-16 pubmed publisher
Mutations in the THAP1 gene encoding the transcription factor THAP1 have been shown to cause DYT6 dystonia...